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BRCA2 c.633del ;(p.R212Efs*18)
Variant ID: 13-32903581-TC-T
NM_000059.3(
BRCA2
):c.633del;(p.R212Efs*18)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Research : Bcr
Weber-Lassalle, Nana N; Hauke, Jan J; Ramser, Juliane J; Richters, Lisa L; Groß, Eva E; Blümcke, Britta B; Gehrig, Andrea A; Kahlert, Anne-Karin AK; Müller, Clemens R CR; Hackmann, Karl K; Honisch, Ellen E; Weber-Lassalle, Konstantin K; Niederacher, Dieter D; Borde, Julika J; Thiele, Holger H; Ernst, Corinna C; Altmüller, Janine J; Neidhardt, Guido G; Nürnberg, Peter P; Klaschik, Kristina K; Schroeder, Christopher C; Platzer, Konrad K; Volk, Alexander E AE; Wang-Gohrke, Shan S; Just, Walter W; Auber, Bernd B; Kubisch, Christian C; Schmidt, Gunnar G; Horvath, Judit J; Wappenschmidt, Barbara B; Engel, Christoph C; Arnold, Norbert N; Dworniczak, Bernd B; Rhiem, Kerstin K; Meindl, Alfons A; Schmutzler, Rita K RK; Hahnen, Eric E
Publication Date: 2018-01-24
Variant appearance in text: BRCA2: 633del
PubMed Link:
29368626
Variant Present in the following documents:
13058_2018_935_MOESM1_ESM.pdf
View BVdb publication page